A5057646008- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Pediatric health and respiratory diseases
- Asthma and respiratory diseases
- Sinusitis and nasal conditions
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Gut microbiota and health
- Respiratory Support and Mechanisms
- Respiratory viral infections research
- Inhalation and Respiratory Drug Delivery
- Nematode management and characterization studies
- Infant Development and Preterm Care
- Proteoglycans and glycosaminoglycans research
- Congenital Ear and Nasal Anomalies
- Carbohydrate Chemistry and Synthesis
- Dysphagia Assessment and Management
- Legume Nitrogen Fixing Symbiosis
- Genomics and Phylogenetic Studies
- Biopolymer Synthesis and Applications
- Glycosylation and Glycoproteins Research
- Hydrogels: synthesis, properties, applications
- CRISPR and Genetic Engineering
- Vascular Anomalies and Treatments
- Neuroscience of respiration and sleep
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2018-2025
German Center for Lung Research
2016-2025
Charité - Universitätsmedizin Berlin
2018-2025
Humboldt-Universität zu Berlin
2021-2025
Freie Universität Berlin
2021-2025
Heidelberg University
2014-2024
Metropolitan University
2023
Weatherford College
2023
University of Gothenburg
2023
ETH Zurich
2023
Early onset and progression of lung disease in children with cystic fibrosis (CF) indicates that sensitive noninvasive outcome measures are needed for diagnostic monitoring early intervention clinical trials. The clearance index (LCI) chest magnetic resonance imaging (MRI) were shown to detect CF; however, the relationship between two remains unknown.To correlate LCI abnormalities detected by MRI compare sensitivity techniques responses therapy pulmonary exacerbations CF.LCI determined...
Rationale: The CFTR (cystic fibrosis transmembrane conductance regulator) modulator combination elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) was shown to improve clinical outcomes and sweat chloride concentration in patients with cystic (CF) one or two F508del alleles. However, the effect of ELX/TEZ/IVA on function airways intestine has not been studied. Objectives: To assess airway intestinal epithelia CF alleles aged 12 years older. Methods: This prospective, observational, multicenter...
Recent studies demonstrated that the triple combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy elexacaftor/tezacaftor/ivacaftor (ETI) improves lung function and reduces pulmonary exacerbations in (CF) patients with at least one F508del allele. However, effects of ETI on downstream consequences CFTR dysfunction, i.e. abnormal viscoelastic properties airway mucus, chronic infection inflammation have not been studied. The aim this study was to determine...
Rationale: We recently demonstrated that triple-combination CFTR (cystic fibrosis transmembrane conductance regulator) modulator therapy with elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) improves function in airway and intestinal epithelia to 40–50% of normal patients cystic (CF) one or two F508del alleles. In previous studies, this improvement was shown improve clinical outcomes; however, effects on the lung clearance index (LCI) determined by multiple-breath washout abnormalities...
Pharmacological improvement of cystic fibrosis transmembrane conductance regulator (CFTR) function with elexacaftor/tezacaftor/ivacaftor (ETI) provides unprecedented improvements in lung and other clinical outcomes patients (CF). However, ETI effects on impaired mucosal homeostasis host defense at the molecular cellular levels airways CF remain unknown.
Abstract The dense O -glycosylation of mucins plays an important role in the defensive properties mucus hydrogel. Aberrant glycosylation is often correlated with inflammation and pathology such as COPD, cancer, Crohn’s disease. inherent complexity glycans diversity -core structure constitute fundamental challenges for analysis mucin-type -glycans. Due to coexistence multiple isomers, multidimensional workflows LC-MS are required. To separate highly polar carbohydrates, porous graphitized...
Changes in the airway microbiome may be important pathophysiology of chronic lung disease patients with cystic fibrosis. However, little is known about early fibrosis and relationship between microbiomes from different niches upper lower airways. Therefore, this cross-sectional study, we examined (nose throat) (sputum) airways children using next generation sequencing. Our results demonstrate a significant difference both α β-diversity nose two other sampling sites. The nasal was...
Rationale: Recent evidence from clinical studies suggests that neutrophil elastase (NE) released in neutrophilic airway inflammation is a key risk factor for the onset and progression of lung disease young children with cystic fibrosis (CF). However, role NE complex vivo pathogenesis CF remains poorly understood.Objectives: To elucidate development features including inflammation, mucus hypersecretion, goblet cell metaplasia, bacterial infection, structural damage vivo.Methods: We used...
Rationale: Cystic fibrosis (CF) lung disease starts in early infancy, suggesting that preventive treatment may be most beneficial. Lung clearance index (LCI) and chest magnetic resonance imaging (MRI) have emerged as promising endpoints of CF disease; however, randomized controlled trials testing the safety efficacy therapies infants with are lacking. Objectives: To determine feasibility, safety, inhalation hypertonic saline (HS) compared isotonic (IS) CF, including LCI MRI outcome measures....
The combination of the CFTR (cystic fibrosis transmembrane conductance regulator) corrector lumacaftor with potentiator ivacaftor has been approved for treatment patients cystic homozygous Phe508del mutation. phase 3 trials examined clinical outcomes but did not evaluate function in patients.To examine effect lumacaftor-ivacaftor on biomarkers aged 12 years and older.This prospective observational study assessed including FEV1% predicted body mass index, sweat chloride concentration, nasal...
Rationale: Previous studies showed that lumacaftor-ivacaftor therapy results in partial rescue of CFTR (cystic fibrosis [CF] transmembrane conductance regulator) activity and a moderate improvement spirometry Phe508del homozygous patients with CF. However, the effects on lung clearance index (LCI), morphology perfusion detected by chest magnetic resonance imaging (MRI), airway microbiome inflammation remain unknown. Objectives: To investigate LCI, MRI scores, inflammation. Methods: In this...
Rationale: Previous cross-sectional studies have demonstrated that chest magnetic resonance imaging (MRI) is sensitive to detect early lung disease in infants and preschool children with cystic fibrosis (CF) without radiation exposure. However, the ability of MRI progression impact diagnosis CF remains unknown. Objectives: To investigate potential by newborn screening (NBS) CF. Methods: An annual was performed from over 4 years a cohort 96 (age, 0-4 yr) who received concurrent diagnoses on...
Introduction: The CFTR modulator drug elexacaftor/tezacaftor/ivacaftor (ETI) was shown to improve function and clinical symptoms in patients with cystic fibrosis (CF) at least one F508del allele. Recently, some case reports suggested potential side effects of ETI on mental health an increase depressive even suicide attempts CF. However, the general this triple combination therapy status CF remain largely unknown. Methods: We, therefore, performed a prospective, observational study real-life...
Mucin disulfide cross-links mediate pathologic mucus formation in muco-obstructive lung diseases. MUC-031, a novel thiol-modified carbohydrate compound, cleaves disulfides to cause mucolysis. The aim of this study was determine the mucolytic and therapeutic effects MUC-031 sputum from patients with cystic fibrosis (CF) mice disease (βENaC-Tg mice).We compared efficacy existing mucolytics (N-acetylcysteine (NAC) recombinant human deoxyribonuclease I (rhDNase)) using rheology measure elastic...
Background We recently demonstrated that elexacaftor/tezacaftor/ivacaftor (ETI) improves the lung clearance index (LCI) and abnormalities in morphology detected by magnetic resonance imaging (MRI) adolescent adult patients with cystic fibrosis (CF). However, real-world data on effect of ETI these sensitive outcomes structure function school-age children CF have not been reported. The aim this study was therefore to examine LCI MRI score aged 6–11 years one or two F508del alleles. Methods...
Intestinal current measurement (ICM) provides a sensitive bioassay for assessment of cystic fibrosis transmembrane conductance regulator (CFTR) function in rectal biopsies ex vivo and is used as diagnostic tool (CF). Furthermore, ICM was shown to be detect pharmacological rescue CFTR by modulators people with CF carrying responsive mutations. Results from clinical trials across age groups indicate that the sweat duct may age-dependent children reaching higher levels than adults. However,...
Background: We investigated whether acupuncture as a supportive antiemetic approach reduces the need for rescue medication during highly emetogenic chemotherapy in pediatric oncology. report on multicenter crossover study at 5 tertiary hospitals Germany.
CFTR modulator therapy with elexacaftor/tezacaftor/ivacaftor (ETI) has been approved for people CF and at least one F508del allele in Europe. In the US, ETI label expanded to 177 rare mutations responsive Fischer rat thyroid cells, including G85E, but not N1303K. However, knowledge on effect of G85E or N1303K function remains limited. vitro effects were measured primary human nasal epithelial cultures (pHNECs) a homozygous patient an patient. Effects vivo these patients assessed using...
Pharmacotherapies for people with cystic fibrosis (pwCF) who have premature termination codons (PTCs) in the transmembrane conductance regulator (CFTR) gene are under development. Thus far, clinical studies focused on compounds that induce translational readthrough (RT) at mRNA PTC location. Recent using primary airway cells showed functional restoration can be achieved through combining multiple mode-of-actions. Here, we assessed induction of CFTR function PTC-containing intestinal...